ClinVar for Gene (Select 26077) - ClinVar - NCBI

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Links from Gene

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2722796	NM_020988.3(GNAO1):c.161+14G>T	GNAO1, GNAO1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2075210	NM_020988.3(GNAO1):c.161+16A>G	GNAO1-AS1, GNAO1	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1696636	Single allele	IRX5, IRX6 +189 more	Deletion	not provided	GPathogenic
Select item 1674489	NM_020988.3(GNAO1):c.161+9C>T	GNAO1, GNAO1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1623505	NM_020988.3(GNAO1):c.161+12T>G	GNAO1, GNAO1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1614505	NM_020988.3(GNAO1):c.161+17T>C	GNAO1, GNAO1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GBenign
Select item 1541331	NM_020988.3(GNAO1):c.161+13G>T	GNAO1, GNAO1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1277245	NM_020988.3(GNAO1):c.161+111CA[14]	GNAO1, GNAO1-AS1	Microsatellite (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1253020	NM_020988.3(GNAO1):c.161+109_161+110dup	GNAO1, GNAO1-AS1	Duplication (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1250234	NM_020988.3(GNAO1):c.161+111CA[13]	GNAO1, GNAO1-AS1	Microsatellite (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1245252	NM_020988.3(GNAO1):c.161+111CA[11]	GNAO1, GNAO1-AS1	Microsatellite (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 415875	NM_020988.3(GNAO1):c.161+8C>G	GNAO1, GNAO1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 415873	NM_020988.3(GNAO1):c.161+8C>T	GNAO1, GNAO1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 144256	GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1	ADGRG1, ADGRG3 +244 more	Copy number loss	See cases	GPathogenic